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Abstract
Wolman disease or Wolman xanthomatosis is a severe childhood form of hereditary lysosomal lipid storage disorders secondary to acid lipase (sterol esterase) deficiency. It is an ultra-rare condition with an incidence of 1/500,000 cases. In this disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. It is an allelic variant of cholesterol ester storage disease. It has autosomal recessive inheritance.
References
COSTACURTA, Elisa Presotto; DE AZEVEDO, Gabriel Cavalcante; DE SOUSA, Ra-faela Rabello Macedo; et al. Doença de Wolman: Uma abordagem diagnóstica, evolu-ção clínica e revisão. Brazilian Journal of Health Review, v. 6, n. 5, p. 21714–21723, 2023.
HOFFMAN, Erin P; BARR, Marci L; GIOVANNI, Monica A; et al. Lysosomal Acid Lipase Deficiency. GeneReviews®, 30 de julho de 2015. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK305870/.
TOMMASO, Adriana Maria Alves De; BARRA, Flávia Fonseca de Carvalho; HESSEL, Gabriel; et al. Importância da Biópsia Hepática no Diagnóstico da Deficiência de Lipase Ácida Lisossomal: Relato de Caso. Revista Paulista de Pediatria, v. 36, n. 1, p. 113–116, 2017.
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